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Clinical and genetic characterization of hypermobile Ehlers-Danlos Syndrome and Irritable bowel syndrome and in the UK Biobank cohort

Clinical and genetic characterization of hypermobile Ehlers-Danlos Syndrome and Irritable bowel syndrome and in the UK Biobank cohort

Principal Investigator: Professor Qasim Aziz
Approved Research ID: 47591
Approval date: March 6th 2020

Lay summary


To find genetic variants associated with hypermobile EDS and IBS as well as hEDS-IBS overlap phenotypes through genome wide association study (GWAS) of well-phenotyped individuals in UK Biobank, UK's largest cohort for genetic studies.

Scientific Rationale

Evidence suggests a link between connective tissue disorders like Ehlers-Danlos Syndrome (EDS) and gastrointestinal symptoms. A significant proportion of patients suffering with gastrointestinal (GI) symptoms also meet the criteria for hypermobile subtype of Ehlers-Danlos Syndrome (hEDS). GI symptoms in hEDS include both structural malformations like hiatus hernia, prolapse and functional GI symptoms like dysmotility, IBS, constipation, nausea, heartburn and others. In a recent study our group found that one-third of patients attending secondary care gastroenterology clinics meet the criteria for hEDS. Among these, prevalence of hEDS was approximately 40% in irritable bowel syndrome (IBS) patients and 50% in patients with functional dyspepsia. A similar study in USA, showed that 30.3% of their hEDS patients met the criteria for IBS. Although these and many other small studies suggest of a link between hEDS and IBS, there is a need to systematically study the genetic landscape as well as the clinical symptoms experienced by these patients in a large population cohort, in order to improve our understanding of pathophysiology in these two discrete conditions with substantial overlap in clinical symptoms. 

Project duration

The tentative duration of project is 36 months.

Public health impact

The outcome of this research will help in establishing a genetic testing service to discriminate the hEDS-IBS patients from IBS alone. Providing a definite diagnosis to a category of patients hitherto either often categorized as unexplained medical disorders will be a major step in legitimizing their complaints, leading to earlier diagnosis and better management strategies leading to improved patient outcomes and quality of life and health care savings for the healthcare sector.

The outcome of the research will be shared with the scientific community through paper publication, conference presentation and engaging the international EDS society and its local chapter (EDS UK), International Foundation for Gastrointestinal Disorders and other organizations promoting research and awareness in IBS. Furthermore, medical magazines, and social media will also be used to disseminate the scientific data to a wider audience, including clinical and social practitioners.